1/502. growth hormone insufficiency in a girl with the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited disease which may comprise many endocrine and non-endocrine components. GH insufficiency has not been recognised as a classical manifestation of this syndrome. We describe the case of a girl with APECED, who presented with four endocrine (hypoparathyroidism, Addison's disease, hypothyroidism, gonadal failure) and three non-endocrine components (candidiasis, ectodermal dystrophy and lichen ruber planus). In addition, growth failure was documented beginning at approximately 8 years; bone age was delayed and stimulated GH peaks after clonidine and arginine were 2.2 and 9.2 microg/l, respectively. A partial empty sella was found on a computed tomography scan of the hypothalamic-pituitary region. At 10.5 years rhGH therapy was started and height gain of 26 cm was observed after 2.7 years of treatment. puberty started at 11.2 years and menarche occurred at 12.7 years. At 13.25 years rhGH therapy was discontinued owing to frequent hypocalcemic crises; serum IGF-1 levels were persistently low in the following years (between 160 and 180 microg/l, normal range for age 250-600 microg/l). The patient attained a final height of 160.8 cm, which was appropriate for her target height. The presence of lichen ruber planus and GH insufficiency probably secondary to empty sella are two unusual findings in patients with APECED. ( info) |
2/502. Bilateral femoral neck fractures secondary to hypocalcemic seizures in a skeletally immature patient. We report the case of an 11-year-old, skeletally immature boy who sustained bilateral femoral neck fractures during seizure activity. These fractures were due to hypocalcemia. Although this condition is a rare complication of seizures, its early recognition and treatment are essential to minimize complications associated with the delayed treatment of intracapsular hip fractures. ( info) |
3/502. Unexpected severe hypocalcemia during continuous venovenous hemodialysis with regional citrate anticoagulation. Citrate is known to induce acute hypocalcemia in patients undergoing liver transplantation during the anhepatic phase. We describe the case of a 71-year-old woman with fulminant hepatic failure secondary to hepatitis a, who was started on continuous venovenous hemodialysis (CVVHD) for acute renal failure. Because anticoagulation with heparin was untenable, regional anticoagulation was accomplished by trisodium citrate (46.7%) infusion. Unfortunately, severe hypocalcemia developed when citrate accumulated because of impaired hepatic metabolism. Because of chelation by citrate, the ionized calcium concentration declined to values as low as 2.72 mg/dL (normal, 4.5 to 5.6 mg/dL), whereas the total calcium concentration remained in the normal range. With an unusually high calcium chloride infusion rate via a central line (up to 140 mL/h of 10 mEq/dL CaCl2) and additional boli of CaCl2 (for a total of 190 mEq), the ionized calcium concentration could be maintained at target levels. Nevertheless, the ionized calcium concentration was maintained in the normal range, and the total calcium concentration increased to a value as high as 15 mg/dL. Thus, the total to ionized calcium ratio was 3.5:1. After 24 hours of treatment, trisodium citrate infusion was gradually reduced from 15 mL/h to 7 mL/h, and the calcium chloride infusion was decreased to 50 mL/h. Nevertheless, persistence of the elevated total to ionized calcium ratio (3:1) indicated citrate accumulation likely secondary to decreased hepatic metabolism. Using this approach, the patient was successfully maintained on CVVHD with regional citrate anticoagulation for a total of 11 days without any additional complications. We conclude that CVVHD with regional citrate anticoagulation can be used in patients with acute hepatic failure if increased CaCl2 requirements are anticipated and if citrate is infused at a lower rate compatible with decreased citrate metabolism. Citrate accumulation should be suspected in patients with an elevated total to ionized Ca ratio during CVVHD with citrate anticoagulation. ( info) |
4/502. Dilated cardiomyopathy as a first sign of nutritional vitamin d deficiency rickets in infancy. A five-month-old boy presented with severe dilated cardiomyopathy, requiring intravenous inotropes as part of the initial management. He was found to have hypocalcemia due to vitamin d deficiency rickets. His cardiac function recovered completely after six months of vitamin D supplementation. ( info) |
| A 49 year-old Japanese woman had subjected enlargement of a cervical tumor, and also suffered two bone fractures in 2 years. The cervical tumor had enlarged further in the month prior to admission, becoming warm and tender. Endocrinological examination revealed that the serum intact PTH concentration was remarkably high at 400 pg/mL despite the low serum calcium concentration, and that the serum vitamin Ds concentration was decreased. Bone roentgenograms revealed severe osteolytic changes compatible with osteitis fibrosa cystica and a pathologic fracture of the humerus. Under a diagnosis of primary hyperparathyroidism, parathyroidectomy was performed, followed by fixation surgery for the pathologic fracture. Histologically, the cervical tumor was a parathyroid chief-cell adenoma with massive necrosis, and the bone pathology by iliac bone biopsy revealed the existence of osteomalacia. She was treated with calcium, vitamins D and K2 and calcitonin after the surgery. This case is a rare condition manifesting hypocalcemia with catastrophic osteoporosis under the coexistence of spontaneous infarction of parathyroid adenoma with osteomalacia, suggesting that the clinical features of hyperparathyroidism are modified by both the autoparathyroidiectomy and the existence of osteomalacia due to vitamin d deficiency. ( info) |
6/502. Hypocalcemic tetany in a toddler with undiagnosed rickets. A 17-month-old black girl presented to the pediatric emergency department with sudden onset of her hands and feet "drawing up." A diagnosis of vitamin d deficiency rickets with tetany was made on a history of exclusive breast-feeding, low serum calcium, phosphorus, and 25-hydroxyvitamin D levels, and bone radiographs. Nutritional rickets should be considered in the differential diagnosis of acute hypocalcemia. ( info) |
7/502. Successful pregnancy outcome in a woman with a gain-of-function mutation of the calcium-sensing receptor. A case report. BACKGROUND: Gain-of-function mutations of the calcium-sensing receptor gene have recently been identified as a cause of familial hypercalciuric hypocalcemia. There have been no earlier reported cases of pregnancy among patients with this disorder. CASE: A 26-year-old woman, gravida 1, para 0, was diagnosed at age 18 as being a heterozygous carrier of a mutation in the calcium-sensing receptor gene. Stable maternal hypocalcemia was achieved during pregnancy with high-dose calcium and 1,25-dihydroxyvitamin D3 therapy. prenatal diagnosis was accomplished via amniocentesis at 16 weeks' gestation. The patient underwent cesarean delivery at 35 5/7 weeks' gestation after developing the hellp syndrome. CONCLUSION: patients with mutations of the calcium-sensing receptor may have a successful pregnancy outcome. This abnormality may be transmitted to the fetus via an autosomal dominant pattern. ( info) |
8/502. cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene. Pyruvate dehydrogenase (PDH) complex deficiency, a common cause of congenital lactic acidosis, is mostly due to mutations in the X-linked gene coding for the E1alpha subunit of the complex. We have studied two unrelated girls presenting a static encephalopathy with spastic quadriplegia, microcephaly and seizures and in one girl, hypocalcaemia, a new finding in PDH complex deficiency. PDH deficiency was diagnosed in adolescence and both girls had low PDH complex activity in muscle but normal amounts of all subunits on Western blotting, and a normal lactate/pyruvate ratio in blood and CSF. mutation analysis of the E1alpha gene at the cDNA or dna level revealed an arginine to histidine substitution at amino acid position 288 (R288H) in the girl with hypocalcaemia and a 12 bp insertion, predicting a four amino acid duplication at the c-terminal end of the protein in the second girl. They both carried a normal and a mutated E1alpha gene and X-inactivation studies showed skewed patterns. CONCLUSION: mutation identification in pyruvate dehydrogenase complex deficiency remains important especially for the determination of the recurrence risk and for reliable genetic counselling in couples with an affected child. ( info) |
9/502. Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. patients with long-chain 3-hydroxyacyl-coa dehydrogenase (LCHAD) deficiency present with a Reye-like syndrome, cardiomyopathy, or sudden unexpected death. We describe an unusual presentation in a patient with unsuspected LCHAD deficiency. The proband presented at 2 months of age with an acute infantile hypocalcaemia and vitamin d deficiency associated with occult, unexplained cholestatic liver disease. Sudden, unexpected death occurred at 8 months. Molecular analysis revealed homozygosity for the prevalent LCHAD (1528G > C, E474Q) mutation. The mother had pre-eclampsia during the third trimester of her pregnancy. In a subsequent pregnancy, she developed severe acute fatty liver of pregnancy (AFLP) and intrauterine fetal death at 33 weeks of gestation. In conclusion, infantile hypocalcaemia is an unusual phenotype associated with LCHAD deficiency. The maternal pregnancy history documents that fetal LCHAD deficiency is associated with a spectrum of maternal illnesses ranging from pre-eclampsia to life-threatening AFLP. ( info) |
| A 36-year-old Japanese woman with pustular psoriasis associated with hypoparathyroidisum was reported. The patient showed hypocalcemia and was treated with calcium supplements and calcitriol. When the serum calcium level became normal, the pustules disappeared and erythroderma completely resolved. Histopathological features consisted of the formation of intraepidermal pustules including spongiform pustules underneath the stratum corneum, and acantholysis was observed in the epidermis. It was suggested that generalized pustular psoriasis may have been induced by hypocalcemia due to hypoparathyroidism in this case, and that acantholysis may be caused by hypocalcemia, since intercellular junctional components such as cadherins are highly dependent on calcium in the epidermis. ( info) |